T57M (p.Thr57Met) variant of TECRL (Q5HYJ1)
T57M (p.Thr57Met) in TECRL (Q5HYJ1) 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 0.13 / 1. The record also includes population frequency data and structural context.
T57M (p.Thr57Met) variant details
- p.Thr57Met
- rs1440574072
- cosmic curated COSV67091
- TOPMed rs1440574072
- gnomAD rs1440574072
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.93
- PolyPhen-2 0.18
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available