A3S (p.Ala3Ser) variant of MAP2K2 (P36507)
A3S (p.Ala3Ser) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs1399102007
- ClinGen CA403396078
- ClinVar RCV000788439
- ClinVar RCV005029451
- Uncertain significance
- Cardiofaciocutaneous syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.27
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)