M1T (p.Met1Thr) variant of SETD2 (Q9BYW2)
M1T (p.Met1Thr) in SETD2 (Q9BYW2) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1221828308
- ClinGen CA352512823
- ClinVar RCV001752042
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- MetaLR 0.51
- MetaSVM -0.34
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.521