P80A (p.Pro80Ala) variant of HCN4 (Q9Y3Q4)
P80A (p.Pro80Ala) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P80A (p.Pro80Ala) variant details
- p.Pro80Ala
- Ensembl rs1595837594
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.25
- MetaLR 0.67
- MetaSVM -0.18
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available