P70L (p.Pro70Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
P70L (p.Pro70Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- ExAC rs751497878
- gnomAD rs751497878
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.27
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available