D60N (p.Asp60Asn) variant of TMC1 (Q8TDI8)
D60N (p.Asp60Asn) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- gnomAD 9-72694656-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.09
- ESM-1b 0.53
- AlphaMissense 0.20
- CADD 24.20
- PolyPhen-2 0.59
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available