N50D (p.Asn50Asp) variant of TMC1 (Q8TDI8)
N50D (p.Asn50Asp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N50D (p.Asn50Asp) variant details
- p.Asn50Asp
- gnomAD 9-72694626-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available