V28V (p.Val28Val) variant of COL3A1 (Collagen alpha-1(III) chain)
V28V (p.Val28Val) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V28V (p.Val28Val) variant details
- p.Val28Val
- rs752574994
- gnomAD 2-188984764-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.75
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Literature evidence available