S13Y (p.Ser13Tyr) variant of MMADHC (Q9H3L0)
S13Y (p.Ser13Tyr) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S13Y (p.Ser13Tyr) variant details
- p.Ser13Tyr
- ExAC rs777848447
- TOPMed rs777848447
- gnomAD rs777848447
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.52
- CADD 25.70
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available