P26L (p.Pro26Leu) variant of RB1 (P06400)
P26L (p.Pro26Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- ExAC rs770488256
- gnomAD rs770488256
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.68
- CADD 7.72
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available