T126N (p.Thr126Asn) variant of KRIT1 (O00522)
T126N (p.Thr126Asn) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T126N (p.Thr126Asn) variant details
- p.Thr126Asn
- TOPMed rs1232504536
- gnomAD rs1232504536
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.12
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available