A2V (p.Ala2Val) variant of MMADHC (Q9H3L0)
A2V (p.Ala2Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1308795683
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.57
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available