P15Q (p.Pro15Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
P15Q (p.Pro15Gln) 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.
P15Q (p.Pro15Gln) variant details
- p.Pro15Gln
- gnomAD 2-227164770-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available