P17Q (p.Pro17Gln) variant of KRIT1 (O00522)
P17Q (p.Pro17Gln) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- Ensembl rs77066620
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available