P62L (p.Pro62Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
P62L (p.Pro62Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- TOPMed rs1340602930
- gnomAD rs1340602930
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.71
- MetaLR 0.92
- MetaSVM 1.05
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available