P13T (p.Pro13Thr) variant of KCNQ4 (P56696)
P13T (p.Pro13Thr) in KCNQ4 (P56696) is a missense change. 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.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- TOPMed rs1647180417
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.40
- MetaLR 0.93
- MetaSVM 0.85
- CADD 22.30
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available