N50S (p.Asn50Ser) variant of TMC1 (Q8TDI8)
N50S (p.Asn50Ser) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- TOPMed rs1003275832
- gnomAD rs1003275832
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.48
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available