T124A (p.Thr124Ala) variant of KRIT1 (O00522)
T124A (p.Thr124Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T124A (p.Thr124Ala) variant details
- p.Thr124Ala
- ExAC rs766114156
- TOPMed rs766114156
- gnomAD rs766114156
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available