P17T (p.Pro17Thr) variant of KRIT1 (O00522)
P17T (p.Pro17Thr) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- TOPMed rs1799796311
- gnomAD rs1799796311
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.58
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available