R10C (p.Arg10Cys) variant of LYST (Lysosomal-trafficking regulator)
R10C (p.Arg10Cys) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs767877661
- ClinGen CA1467754
- cosmic curated COSV67705
- ClinVar RCV001323183
- Uncertain significance
- Inborn genetic diseases; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.24
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)