L3V (p.Leu3Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
L3V (p.Leu3Val) in COL4A5 (Collagen alpha-5(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 and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- TOPMed rs1026787719
- gnomAD rs1026787719
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.17
- MetaLR 0.44
- MetaSVM -0.67
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available