P41S (p.Pro41Ser) variant of KRIT1 (O00522)
P41S (p.Pro41Ser) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- TOPMed rs1258414309
- gnomAD rs1258414309
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.53
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available