L35V (p.Leu35Val) variant of COL3A1 (Collagen alpha-1(III) chain)
L35V (p.Leu35Val) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- ESP rs368703012
- TOPMed rs368703012
- gnomAD rs368703012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.47
- CADD 23.10
- PolyPhen-2 0.72
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available