P42Q (p.Pro42Gln) variant of HCN1 (O60741)
P42Q (p.Pro42Gln) in HCN1 (O60741) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P42Q (p.Pro42Gln) variant details
- p.Pro42Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 18.80
- PolyPhen-2 0.13
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs56164833)
- Population evidence available
- Structural context available