A14V (p.Ala14Val) variant of MAP2K1 (Q02750)
A14V (p.Ala14Val) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs2093344028
- ClinGen CA392931595
- ClinVar RCV003654849
- TOPMed rs2093344028
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.26
- MetaLR 0.55
- MetaSVM -0.13
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available