S2S (p.Ser2Ser) variant of TMC1 (Q8TDI8)
S2S (p.Ser2Ser) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- gnomAD 9-72648654-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0823
- CADD 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available