K4R (p.Lys4Arg) variant of TMC1 (Q8TDI8)
K4R (p.Lys4Arg) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- ESP rs145050019
- ExAC rs145050019
- TOPMed rs145050019
- gnomAD rs145050019
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.50
- PolyPhen-2 0.90
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available