N50N (p.Asn50Asn) variant of TMC1 (Q8TDI8)
N50N (p.Asn50Asn) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N50N (p.Asn50Asn) variant details
- p.Asn50Asn
- rs1229357087
- gnomAD 9-72694628-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 3.96
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available