W195L (p.Trp195Leu) variant of RB1 (P06400)
W195L (p.Trp195Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
W195L (p.Trp195Leu) variant details
- p.Trp195Leu
- Ensembl rs2138093650
- Likely pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Retinoblastoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available