N27D (p.Asn27Asp) variant of MAPK1 (P28482)
N27D (p.Asn27Asp) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N27D (p.Asn27Asp) variant details
- p.Asn27Asp
- rs2517546999
- ClinGen CA410865484
- ClinVar RCV002308956
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- MAPK1 VRT-11E: score 6.21