P72L (p.Pro72Leu) variant of CASK (O14936)
P72L (p.Pro72Leu) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- ExAC rs747541503
- gnomAD rs747541503
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.57
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.0548