A14T (p.Ala14Thr) variant of RB1 (P06400)
A14T (p.Ala14Thr) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- cosmic curated COSV10940
- Ensembl rs2138027266
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.16
- MetaLR 0.46
- MetaSVM -0.52
- CADD 10.70
- PolyPhen-2 0.13
- SIFT 0.58
- Population evidence available
- Structural context available