S134P (p.Ser134Pro) variant of LYST (Lysosomal-trafficking regulator)
S134P (p.Ser134Pro) 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 0.13 / 1. The record also includes population frequency data and structural context.
S134P (p.Ser134Pro) variant details
- p.Ser134Pro
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10108
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.01
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available