A128V (p.Ala128Val) variant of MMADHC (Q9H3L0)
A128V (p.Ala128Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- gnomAD rs1341440892
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.22
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available