T94A (p.Thr94Ala) variant of MAPK1 (P28482)
T94A (p.Thr94Ala) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of MAPK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- rs202041676
- ClinGen CA10124771
- cosmic curated COSV99308
- ClinVar RCV003964635
- Likely benign
- MAPK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Likely benign (MAPK1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- MAPK1 DOX: score 7.52