A88S (p.Ala88Ser) variant of MMADHC (Q9H3L0)
A88S (p.Ala88Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A88S (p.Ala88Ser) variant details
- p.Ala88Ser
- 1000Genomes rs550055732
- ExAC rs550055732
- gnomAD rs550055732
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.29
- CADD 0.14
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available