A22P (p.Ala22Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
A22P (p.Ala22Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD 2-227164790-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available