H4N (p.His4Asn) variant of KCNQ5 (Q9NR82)
H4N (p.His4Asn) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H4N (p.His4Asn) variant details
- p.His4Asn
- gnomAD 6-72622199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.35
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available