P129S (p.Pro129Ser) variant of MMADHC (Q9H3L0)
P129S (p.Pro129Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P129S (p.Pro129Ser) variant details
- p.Pro129Ser
- ESP rs367779384
- ExAC rs367779384
- gnomAD rs367779384
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.32
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available