L34V (p.Leu34Val) variant of MAP2K2 (P36507)
L34V (p.Leu34Val) in MAP2K2 (P36507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- ExAC rs766428454
- TOPMed rs766428454
- gnomAD rs766428454
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- CADD 18.10
- PolyPhen-2 0.99
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available