A35T (p.Ala35Thr) variant of MAPK1 (P28482)
A35T (p.Ala35Thr) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs868472778
- ClinGen CA322146468
- ClinVar RCV003442640
- Ensembl rs868472778
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.30
- CADD 23.90
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 6.6e-05)
- Structural context available
- MAPK1 DOX: score 7.19