R15G (p.Arg15Gly) variant of MAPK1 (P28482)
R15G (p.Arg15Gly) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- TOPMed rs2069999510
- Uncertain significance
- Noonan syndrome 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.28
- SIFT 0.24
- ClinVar: Uncertain significance (Noonan syndrome 13)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MAPK1 DOX: score 7.9