E35K (p.Glu35Lys) variant of LYST (Lysosomal-trafficking regulator)
E35K (p.Glu35Lys) 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 0.47 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs148788623
- cosmic curated COSV10108
- ESP rs148788623
- ExAC rs148788623
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.24
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available