H4Q (p.His4Gln) variant of KCNQ5 (Q9NR82)
H4Q (p.His4Gln) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- gnomAD 6-72622201-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.36
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available