V5L (p.Val5Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
V5L (p.Val5Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 2-188974502-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.57
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available