L34F (p.Leu34Phe) variant of MMACHC (Q9Y4U1)
L34F (p.Leu34Phe) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- ExAC rs758974575
- gnomAD rs758974575
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- CADD 19.40
- PolyPhen-2 0.13
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available