D52N (p.Asp52Asn) variant of TMC1 (Q8TDI8)
D52N (p.Asp52Asn) in TMC1 (Q8TDI8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- gnomAD rs1033828130
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available