S13F (p.Ser13Phe) variant of MMADHC (Q9H3L0)
S13F (p.Ser13Phe) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- ExAC rs777848447
- TOPMed rs777848447
- gnomAD rs777848447
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.51
- CADD 28.00
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available