F4V (p.Phe4Val) variant of RAI1 (Retinoic acid-induced protein 1)
F4V (p.Phe4Val) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F4V (p.Phe4Val) variant details
- p.Phe4Val
- gnomAD 17-17792958-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available