N43S (p.Asn43Ser) variant of PROS1 (Vitamin K-dependent protein S)
N43S (p.Asn43Ser) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thromboembolism; Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- rs748858986
- ClinGen CA2503586
- ClinVar RCV000852006
- ClinVar RCV003768319
- Uncertain significance
- Thromboembolism; Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.72
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Thromboembolism; Thrombophilia due to protein S deficiency, auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)