N47D (p.Asn47Asp) variant of MAPK1 (P28482)
N47D (p.Asn47Asp) in MAPK1 (P28482) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- ExAC rs755253671
- gnomAD rs755253671
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.14
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- MAPK1 VRT-11E: score 7.76