H11R (p.His11Arg) variant of RAI1 (Retinoic acid-induced protein 1)
H11R (p.His11Arg) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- TOPMed rs2032076710
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available