A2T (p.Ala2Thr) variant of MMADHC (Q9H3L0)
A2T (p.Ala2Thr) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ExAC rs753911939
- gnomAD rs753911939
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.59
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available