P127Q (p.Pro127Gln) variant of KRIT1 (O00522)
P127Q (p.Pro127Gln) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P127Q (p.Pro127Gln) variant details
- p.Pro127Gln
- gnomAD rs1216285612
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.53
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available