K65E (p.Lys65Glu) variant of TMC1 (Q8TDI8)
K65E (p.Lys65Glu) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of TMC1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K65E (p.Lys65Glu) variant details
- p.Lys65Glu
- rs145098032
- ClinGen CA5081619
- ClinVar RCV002904415
- 1000Genomes rs145098032
- Likely benign
- TMC1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.13
- ClinVar: Likely benign (TMC1-related disorder; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available