R26W (p.Arg26Trp) variant of KRIT1 (O00522)
R26W (p.Arg26Trp) in KRIT1 (O00522) 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 and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- cosmic curated COSV56066
- 1000Genomes rs570830572
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.44
- CADD 29.70
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- Structural context available