L55V (p.Leu55Val) variant of LYST (Lysosomal-trafficking regulator)
L55V (p.Leu55Val) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- rs1182404827
- NCI-TCGA Cosmic COSV6770
- cosmic curated COSV67707
- gnomAD rs1182404827
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.75
- MetaLR 0.62
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available