E25K (p.Glu25Lys) variant of TMC1 (Q8TDI8)
E25K (p.Glu25Lys) in TMC1 (Q8TDI8) 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 0.41 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs1286247872
- NCI-TCGA Cosmic COSV5276
- cosmic curated COSV52768
- TOPMed rs1286247872
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.15
- ESM-1b 0.44
- AlphaMissense 0.12
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available