S32L (p.Ser32Leu) variant of KRIT1 (O00522)
S32L (p.Ser32Leu) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- cosmic curated COSV56066
- ExAC rs767430726
- TOPMed rs767430726
- gnomAD rs767430726
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available