T28N (p.Thr28Asn) variant of MAP2K1 (Q02750)
T28N (p.Thr28Asn) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T28N (p.Thr28Asn) variant details
- p.Thr28Asn
- Ensembl rs2140578335
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.47
- MetaLR 0.61
- MetaSVM 0.09
- CADD 22.20
- PolyPhen-2 0.43
- SIFT 0.07
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available