V57M (p.Val57Met) variant of HCN1 (O60741)
V57M (p.Val57Met) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V57M (p.Val57Met) variant details
- p.Val57Met
- cosmic curated COSV10814
- Ensembl rs1740002750
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available