K48T (p.Lys48Thr) variant of RAI1 (Retinoic acid-induced protein 1)
K48T (p.Lys48Thr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K48T (p.Lys48Thr) variant details
- p.Lys48Thr
- Ensembl rs1598086719
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available