A108T (p.Ala108Thr) variant of KRIT1 (O00522)
A108T (p.Ala108Thr) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A108T (p.Ala108Thr) variant details
- p.Ala108Thr
- ExAC rs766038368
- gnomAD rs766038368
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- CADD 21.90
- PolyPhen-2 0.19
- SIFT 0.14
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available