V95L (p.Val95Leu) variant of MMADHC (Q9H3L0)
V95L (p.Val95Leu) 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.
V95L (p.Val95Leu) variant details
- p.Val95Leu
- ExAC rs769956575
- gnomAD rs769956575
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.27
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available