P19T (p.Pro19Thr) variant of KCNQ4 (P56696)
P19T (p.Pro19Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD 1-40784148-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.27
- MetaLR 0.77
- MetaSVM 0.25
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available