L107V (p.Leu107Val) variant of MMADHC (Q9H3L0)
L107V (p.Leu107Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- gnomAD rs1320703293
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.16
- CADD 15.80
- PolyPhen-2 0.08
- SIFT 0.81
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available