A20V (p.Ala20Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
A20V (p.Ala20Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 2-227010386-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 13.80
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available