P64S (p.Pro64Ser) variant of MMADHC (Q9H3L0)
P64S (p.Pro64Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- ESP rs138571795
- ExAC rs138571795
- TOPMed rs138571795
- gnomAD rs138571795
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available