T28M (p.Thr28Met) variant of HCN1 (O60741)
T28M (p.Thr28Met) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T28M (p.Thr28Met) variant details
- p.Thr28Met
- Ensembl rs2112109678
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available