A16V (p.Ala16Val) variant of RB1 (P06400)
A16V (p.Ala16Val) 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.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- Ensembl rs2138027357
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- MetaLR 0.49
- MetaSVM -0.53
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available