E27K (p.Glu27Lys) variant of TMC1 (Q8TDI8)
E27K (p.Glu27Lys) 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 0.27 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs777217789
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99920
- ExAC rs777217789
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available