P32R (p.Pro32Arg) variant of HCN1 (O60741)
P32R (p.Pro32Arg) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- ExAC rs773224896
- gnomAD rs773224896
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.30
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available