K5Q (p.Lys5Gln) variant of MAP2K1 (Q02750)
K5Q (p.Lys5Gln) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K5Q (p.Lys5Gln) variant details
- p.Lys5Gln
- gnomAD 15-66387360-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.53
- MetaLR 0.66
- MetaSVM 0.23
- CADD 24.30
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available