K96E (p.Lys96Glu) variant of KRIT1 (O00522)
K96E (p.Lys96Glu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K96E (p.Lys96Glu) variant details
- p.Lys96Glu
- gnomAD rs1180642422
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.36
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available