P10L (p.Pro10Leu) variant of SMARCE1 (Q969G3)
P10L (p.Pro10Leu) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs2508617539
- ClinGen CA399370969
- ClinVar RCV003328975
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.456