P15A (p.Pro15Ala) variant of MAP2K1 (Q02750)
P15A (p.Pro15Ala) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- rs916502006
- ClinGen CA271646517
- ClinVar RCV002333721
- ClinVar RCV003539421
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.34
- MetaLR 0.55
- MetaSVM -0.19
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available