A52D (p.Ala52Asp) variant of MAPK1 (P28482)
A52D (p.Ala52Asp) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, 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 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
A52D (p.Ala52Asp) variant details
- p.Ala52Asp
- rs2145705712
- ClinGen CA410867649
- cosmic curated COSV10803
- ClinVar RCV002273208
- Uncertain significance
- Noonan syndrome 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Uncertain significance (Noonan syndrome 13)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- MAP1K ETP: score 8.07
- Cited in: Noonan Syndrome. (PMID 20301303)