R41H (p.Arg41His) variant of PROS1 (Vitamin K-dependent protein S)
R41H (p.Arg41His) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs963668412
- ClinGen CA78505726
- NCI-TCGA Cosmic COSV6239
- ClinVar RCV003484580
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S… (PMID 7803790)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)