N15T (p.Asn15Thr) variant of MAP2K2 (P36507)
N15T (p.Asn15Thr) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N15T (p.Asn15Thr) variant details
- p.Asn15Thr
- rs1408360787
- ClinGen CA403396010
- ClinVar RCV003177074
- ClinVar RCV005101073
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.15
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available