N24D (p.Asn24Asp) variant of KRIT1 (O00522)
N24D (p.Asn24Asp) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N24D (p.Asn24Asp) variant details
- p.Asn24Asp
- gnomAD rs1310750547
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.45
- Most common in the HGDP:XIBO population (allele frequency 0.56)
- Structural context available