G17D (p.Gly17Asp) variant of MAP2K1 (Q02750)
G17D (p.Gly17Asp) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- Ensembl rs2140511724
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.53
- MetaLR 0.72
- MetaSVM 0.28
- CADD 26.70
- PolyPhen-2 0.77
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available