C39S (p.Cys39Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
C39S (p.Cys39Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C39S (p.Cys39Ser) variant details
- p.Cys39Ser
- TOPMed rs1463080946
- gnomAD rs1463080946
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available