S3P (p.Ser3Pro) variant of RAI1 (Retinoic acid-induced protein 1)
S3P (p.Ser3Pro) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- gnomAD 17-17792955-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available