C39F (p.Cys39Phe) variant of COL4A3 (Collagen alpha-3(IV) chain)
C39F (p.Cys39Phe) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C39F (p.Cys39Phe) variant details
- p.Cys39Phe
- gnomAD 2-227237996-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.65
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available