K47Q (p.Lys47Gln) variant of KRIT1 (O00522)
K47Q (p.Lys47Gln) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K47Q (p.Lys47Gln) variant details
- p.Lys47Gln
- ExAC rs767659177
- gnomAD rs767659177
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.37
- Most common in the Amish population (allele frequency 0.058)
- Structural context available