P99S (p.Pro99Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
P99S (p.Pro99Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P99S (p.Pro99Ser) variant details
- p.Pro99Ser
- TOPMed rs1195937907
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.20
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available