P114A (p.Pro114Ala) variant of KRIT1 (O00522)
P114A (p.Pro114Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P114A (p.Pro114Ala) variant details
- p.Pro114Ala
- TOPMed rs1447587014
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.24
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available