P77L (p.Pro77Leu) variant of HCN1 (O60741)
P77L (p.Pro77Leu) 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 0.45 / 1. The record also includes population frequency data and structural context.
P77L (p.Pro77Leu) variant details
- p.Pro77Leu
- rs1348079874
- NCI-TCGA Cosmic COSV5751
- cosmic curated COSV57514
- TOPMed rs1348079874
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.30
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available