M40I (p.Met40Ile) variant of RRAD (GTP-binding protein RAD)
M40I (p.Met40Ile) in RRAD (GTP-binding protein RAD) 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 0.31 / 1. The record also includes population frequency data and structural context.
M40I (p.Met40Ile) variant details
- p.Met40Ile
- rs764978814
- ClinGen CA8098092
- ClinVar RCV004194890
- ExAC rs764978814
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.79
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available