T99S (p.Thr99Ser) variant of HCN1 (O60741)
T99S (p.Thr99Ser) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T99S (p.Thr99Ser) variant details
- p.Thr99Ser
- rs143865339
- ClinGen CA359706333
- ClinVar RCV003152084
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.11
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available