G96V (p.Gly96Val) variant of CASK (O14936)
G96V (p.Gly96Val) in CASK (O14936) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a lung large cell carcinoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G96V (p.Gly96Val) variant details
- p.Gly96Val
- cosmic curated COSV59366
- UniProt VAR 041956
- Uncertain significance
- in a lung large cell carcinoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.59
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in a lung large cell carcinoma sample)
- UniProt: Uncertain significance (in a lung large cell carcinoma sample)
- Population evidence available
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)