V52V (p.Val52Val) variant of MMACHC (Q9Y4U1)
V52V (p.Val52Val) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V52V (p.Val52Val) variant details
- p.Val52Val
- rs763931975
- gnomAD 1-45507430-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 8.73
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available