P67T (p.Pro67Thr) variant of KCNQ2 (O43526)
P67T (p.Pro67Thr) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P67T (p.Pro67Thr) variant details
- p.Pro67Thr
- TOPMed rs972841085
- gnomAD rs972841085
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.55
- CADD 23.00
- PolyPhen-2 0.56
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available