T60M (p.Thr60Met) variant of SETD5 (Q9C0A6)
T60M (p.Thr60Met) in SETD5 (Q9C0A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs944546955
- NCI-TCGA Cosmic COSV5670
- cosmic curated COSV56709
- TOPMed rs944546955
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.35
- MetaLR 0.80
- MetaSVM 0.67
- CADD 29.90
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available