L8P (p.Leu8Pro) variant of COL4A5 (Collagen alpha-5(IV) chain)
L8P (p.Leu8Pro) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD X-108440148-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.58
- MetaLR 0.50
- MetaSVM -0.38
- CADD 24.40
- PolyPhen-2 0.55
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available