P41A (p.Pro41Ala) variant of KRIT1 (O00522)
P41A (p.Pro41Ala) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- TOPMed rs1258414309
- gnomAD rs1258414309
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available