H11L (p.His11Leu) variant of RAI1 (Retinoic acid-induced protein 1)
H11L (p.His11Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
H11L (p.His11Leu) variant details
- p.His11Leu
- TOPMed rs2032076710
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available