A18V (p.Ala18Val) variant of RB1 (P06400)
A18V (p.Ala18Val) in RB1 (P06400) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 13-48303965-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.19
- MetaLR 0.49
- MetaSVM -0.59
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available