D44N (p.Asp44Asn) variant of MAPK1 (P28482)
D44N (p.Asp44Asn) in MAPK1 (P28482) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- ExAC rs779189994
- TOPMed rs779189994
- gnomAD rs779189994
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.60
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available
- MAPK1 SCH772984: score 7.56