T12N (p.Thr12Asn) variant of RB1 (P06400)
T12N (p.Thr12Asn) 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, published literature, and structural context.
T12N (p.Thr12Asn) variant details
- p.Thr12Asn
- gnomAD 13-48303947-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.13
- MetaLR 0.49
- MetaSVM -0.50
- CADD 6.78
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available