P5T (p.Pro5Thr) variant of KCNQ4 (P56696)
P5T (p.Pro5Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD 1-40784106-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.33
- MetaLR 0.84
- MetaSVM 0.63
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available