S20F (p.Ser20Phe) variant of MMADHC (Q9H3L0)
S20F (p.Ser20Phe) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- TOPMed rs1472806613
- gnomAD rs1472806613
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.63
- CADD 23.20
- PolyPhen-2 0.40
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available