E5Q (p.Glu5Gln) variant of KRIT1 (O00522)
E5Q (p.Glu5Gln) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- ESP rs374117797
- ExAC rs374117797
- gnomAD rs374117797
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the HGDP:XIBO population (allele frequency 0.56)
- Structural context available