S57P (p.Ser57Pro) variant of HCN4 (Q9Y3Q4)
S57P (p.Ser57Pro) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- gnomAD rs1023219329
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- MetaLR 0.79
- MetaSVM 0.26
- CADD 22.40
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 7.4e-05)
- Structural context available