H5N (p.His5Asn) variant of KCNQ5 (Q9NR82)
H5N (p.His5Asn) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H5N (p.His5Asn) variant details
- p.His5Asn
- gnomAD 6-72622202-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available