L14P (p.Leu14Pro) variant of CASK (O14936)
L14P (p.Leu14Pro) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD rs1362387864
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.58
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.206