L107V (p.Leu107Val) variant of SMARCE1 (Q969G3)
L107V (p.Leu107Val) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- rs1555605789
- ClinGen CA399367193
- ClinVar RCV000658188
- TOPMed rs1555605789
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available