P81L (p.Pro81Leu) variant of KRIT1 (O00522)
P81L (p.Pro81Leu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- ExAC rs781265273
- TOPMed rs781265273
- gnomAD rs781265273
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.29
- CADD 27.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Amish population (allele frequency 0.058)
- Structural context available