A27V (p.Ala27Val) variant of HCN1 (O60741)
A27V (p.Ala27Val) 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.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- TOPMed rs1461851528
- gnomAD rs1461851528
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available