A14V (p.Ala14Val) variant of RB1 (P06400)
A14V (p.Ala14Val) in RB1 (P06400) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- Ensembl rs1952052497
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.14
- MetaLR 0.54
- MetaSVM -0.38
- CADD 11.70
- PolyPhen-2 0.12
- SIFT 0.32
- ClinVar: Uncertain significance (Retinoblastoma)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available