V12A (p.Val12Ala) variant of MMADHC (Q9H3L0)
V12A (p.Val12Ala) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD rs1682805804
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.69
- CADD 26.50
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available