S53C (p.Ser53Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
S53C (p.Ser53Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S53C (p.Ser53Cys) variant details
- p.Ser53Cys
- ExAC rs771913348
- gnomAD rs771913348
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.51
- CADD 24.00
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available