A29T (p.Ala29Thr) variant of MAP2K2 (P36507)
A29T (p.Ala29Thr) in MAP2K2 (P36507) 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 0.36 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- ExAC rs770134564
- gnomAD rs770134564
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.28
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.91
- CADD 20.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available