P14S (p.Pro14Ser) variant of KCNQ4 (P56696)
P14S (p.Pro14Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD 1-40784133-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- MetaLR 0.82
- MetaSVM 0.35
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available