V40V (p.Val40Val) variant of SLC22A1 (O15245)
V40V (p.Val40Val) in SLC22A1 (O15245) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V40V (p.Val40Val) variant details
- p.Val40Val
- rs946248370
- gnomAD 6-160122055-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 2.94
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available