R24S (p.Arg24Ser) variant of MMADHC (Q9H3L0)
R24S (p.Arg24Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- ExAC rs755350187
- gnomAD rs755350187
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.59
- CADD 22.30
- PolyPhen-2 0.91
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available