P2L (p.Pro2Leu) variant of KCNQ5 (Q9NR82)
P2L (p.Pro2Leu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- gnomAD 6-72622194-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.71
- CADD 27.50
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available