K5N (p.Lys5Asn) variant of TMC1 (Q8TDI8)
K5N (p.Lys5Asn) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- ExAC rs766655548
- TOPMed rs766655548
- gnomAD rs766655548
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- ESM-1b 0.08
- AlphaMissense 0.13
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available