P2T (p.Pro2Thr) variant of KCNQ5 (Q9NR82)
P2T (p.Pro2Thr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- gnomAD 6-72622193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.61
- CADD 26.10
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available