V123L (p.Val123Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
V123L (p.Val123Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V123L (p.Val123Leu) variant details
- p.Val123Leu
- 1000Genomes rs193009266
- TOPMed rs193009266
- gnomAD rs193009266
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- CADD 17.00
- PolyPhen-2 0.07
- SIFT 0.65
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available