P87T (p.Pro87Thr) variant of HCN1 (O60741)
P87T (p.Pro87Thr) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P87T (p.Pro87Thr) variant details
- p.Pro87Thr
- 1000Genomes rs370113959
- ESP rs370113959
- ExAC rs370113959
- TOPMed rs370113959
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.59
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available