R34Q (p.Arg34Gln) variant of TMC1 (Q8TDI8)
R34Q (p.Arg34Gln) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of TMC1-related disorder. 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.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- rs753977925
- NCI-TCGA Cosmic COSV5278
- cosmic curated COSV52787
- ExAC rs753977925
- Uncertain significance
- TMC1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 25.40
- PolyPhen-2 0.89
- SIFT 0.16
- ClinVar: Uncertain significance (TMC1-related disorder)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available