G71S (p.Gly71Ser) variant of HCN1 (O60741)
G71S (p.Gly71Ser) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- ExAC rs771362022
- gnomAD rs771362022
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.35
- AlphaMissense 0.99
- MetaLR 0.43
- MetaSVM -0.01
- CADD 16.40
- PolyPhen-2 0.57
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available