V44A (p.Val44Ala) variant of MMADHC (Q9H3L0)
V44A (p.Val44Ala) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- gnomAD rs1245975393
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.56
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available