F19S (p.Phe19Ser) variant of MMACHC (Q9Y4U1)
F19S (p.Phe19Ser) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F19S (p.Phe19Ser) variant details
- p.Phe19Ser
- gnomAD rs1273105824
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.56
- CADD 26.70
- PolyPhen-2 0.47
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available