H5Y (p.His5Tyr) variant of KCNQ5 (Q9NR82)
H5Y (p.His5Tyr) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- TOPMed rs2098915497
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available