A10G (p.Ala10Gly) variant of KRIT1 (O00522)
A10G (p.Ala10Gly) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
A10G (p.Ala10Gly) variant details
- p.Ala10Gly
- rs1057518241
- ClinGen CA16042734
- ClinVar RCV000412729
- Ensembl rs1057518241
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.27
- MetaLR 0.42
- MetaSVM -0.14
- PolyPhen-2 0.49
- SIFT 0.02
- EVE 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available