W24C (p.Trp24Cys) variant of HCN4 (Q9Y3Q4)
W24C (p.Trp24Cys) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
W24C (p.Trp24Cys) variant details
- p.Trp24Cys
- gnomAD rs1479330429
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.39
- MetaLR 0.73
- MetaSVM 0.49
- CADD 19.10
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available