A166P (p.Ala166Pro) variant of CASK (O14936)
A166P (p.Ala166Pro) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
A166P (p.Ala166Pro) variant details
- p.Ala166Pro
- rs1556016347
- ClinGen CA412998971
- NCI-TCGA Cosmic COSV5937
- cosmic curated COSV59372
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available