K95E (p.Lys95Glu) variant of KRIT1 (O00522)
K95E (p.Lys95Glu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K95E (p.Lys95Glu) variant details
- p.Lys95Glu
- gnomAD rs1364075807
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available