P99L (p.Pro99Leu) variant of LYST (Lysosomal-trafficking regulator)
P99L (p.Pro99Leu) 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 Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- rs781295135
- ClinGen CA1467653
- ClinVar RCV001050338
- ExAC rs781295135
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)