G71D (p.Gly71Asp) variant of HCN1 (O60741)
G71D (p.Gly71Asp) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- gnomAD rs1487553404
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.37
- AlphaMissense 0.99
- MetaLR 0.45
- MetaSVM 0.00
- CADD 17.20
- PolyPhen-2 0.76
- Most common in the South Asian population (allele frequency 7.6e-05)
- Structural context available