A43T (p.Ala43Thr) variant of PROC (Vitamin K-dependent protein C)
A43T (p.Ala43Thr) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; PROC-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs767626189
- ClinGen CA1859246
- ClinVar RCV001801321
- ClinVar RCV003416461
- Conflicting interpretations
- not specified; not provided; PROC-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.81
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; PROC-related disorder)
- EBI: Variant of uncertain significance (in dbSNP:rs767626189)
- UniProt: Uncertain significance (in dbSNP:rs767626189)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Six different point mutations in seven Danish families with symptomatic protein C deficiency. (PMID 7792728)