V5V (p.Val5Val) variant of COL3A1 (Collagen alpha-1(III) chain)
V5V (p.Val5Val) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V5V (p.Val5Val) variant details
- p.Val5Val
- gnomAD 2-188974504-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 12.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available