A30T (p.Ala30Thr) variant of MMADHC (Q9H3L0)
A30T (p.Ala30Thr) 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.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs780143636
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.16
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available