T121I (p.Thr121Ile) variant of KRIT1 (O00522)
T121I (p.Thr121Ile) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T121I (p.Thr121Ile) variant details
- p.Thr121Ile
- TOPMed rs1180804711
- gnomAD rs1180804711
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available