T12I (p.Thr12Ile) variant of RB1 (P06400)
T12I (p.Thr12Ile) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- Ensembl rs2138027197
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.11
- MetaLR 0.49
- MetaSVM -0.49
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available