A72P (p.Ala72Pro) variant of RAI1 (Retinoic acid-induced protein 1)
A72P (p.Ala72Pro) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A72P (p.Ala72Pro) variant details
- p.Ala72Pro
- ESP rs370671656
- ExAC rs370671656
- TOPMed rs370671656
- gnomAD rs370671656
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.00
- CADD 6.95
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available