V123I (p.Val123Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
V123I (p.Val123Ile) 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.
V123I (p.Val123Ile) variant details
- p.Val123Ile
- 1000Genomes rs193009266
- TOPMed rs193009266
- gnomAD rs193009266
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available