P15S (p.Pro15Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
P15S (p.Pro15Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- gnomAD 2-227164769-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.16
- CADD 8.51
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available