V87L (p.Val87Leu) variant of PROS1 (Vitamin K-dependent protein S)
V87L (p.Val87Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THPH5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
V87L (p.Val87Leu) variant details
- p.Val87Leu
- rs557733421
- UniProt VAR 046812
- 1000Genomes rs557733421
- ExAC rs557733421
- Pathogenic
- in THPH5
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Cited in: Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein… (PMID 15238143)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)