N24H (p.Asn24His) variant of KRIT1 (O00522)
N24H (p.Asn24His) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N24H (p.Asn24His) variant details
- p.Asn24His
- gnomAD rs1310750547
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- CADD 23.90
- PolyPhen-2 0.73
- SIFT 0.09
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available