H5R (p.His5Arg) variant of KCNQ5 (Q9NR82)
H5R (p.His5Arg) in KCNQ5 (Q9NR82) 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 0.38 / 1. The record also includes population frequency data and structural context.
H5R (p.His5Arg) variant details
- p.His5Arg
- rs2481564953
- ClinGen CA364823974
- ClinVar RCV003318045
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.45
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available