N24S (p.Asn24Ser) variant of KRIT1 (O00522)
N24S (p.Asn24Ser) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- TOPMed rs1799790989
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available