A32V (p.Ala32Val) variant of MAP2K1 (Q02750)
A32V (p.Ala32Val) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs1203670813
- ClinGen CA392928922
- ClinVar RCV002374353
- ClinVar RCV003738232
- Uncertain significance
- Cardiovascular phenotype; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.45
- MetaLR 0.59
- MetaSVM 0.14
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 1.25