C38S (p.Cys38Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
C38S (p.Cys38Ser) in COL4A5 (Collagen alpha-5(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.
C38S (p.Cys38Ser) variant details
- p.Cys38Ser
- gnomAD X-108539777-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.77
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available