L45M (p.Leu45Met) variant of RAI1 (Retinoic acid-induced protein 1)
L45M (p.Leu45Met) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- rs746633997
- ClinGen CA8418054
- ClinVar RCV003572723
- ExAC rs746633997
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.30
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available