V36A (p.Val36Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
V36A (p.Val36Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- gnomAD rs1311865804
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- REVEL 0.10
- CADD 0.40
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available