P7S (p.Pro7Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
P7S (p.Pro7Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- ExAC rs776115817
- gnomAD rs776115817
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available