S65Y (p.Ser65Tyr) variant of ACAN (Aggrecan core protein)
S65Y (p.Ser65Tyr) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S65Y (p.Ser65Tyr) variant details
- p.Ser65Tyr
- rs755142678
- ClinGen CA7719165
- NCI-TCGA Cosmic COSV6135
- cosmic curated COSV61357
- Uncertain significance
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.10
- PolyPhen-2 0.88
- SIFT 0.09
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)