S28G (p.Ser28Gly) variant of COL4A3 (Collagen alpha-3(IV) chain)
S28G (p.Ser28Gly) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD rs2065153072
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.15
- CADD 9.54
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available