M28V (p.Met28Val) variant of STAT3 (P40763)
M28V (p.Met28Val) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; STAT3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
M28V (p.Met28Val) variant details
- p.Met28Val
- rs2145013673
- ClinGen CA399597721
- cosmic curated COSV52892
- ClinVar RCV001772469
- Conflicting interpretations
- not provided; STAT3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; STAT3-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available