T75A (p.Thr75Ala) variant of KRIT1 (O00522)
T75A (p.Thr75Ala) in KRIT1 (O00522) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T75A (p.Thr75Ala) variant details
- p.Thr75Ala
- TOPMed rs1799508200
- gnomAD rs1799508200
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available