S69L (p.Ser69Leu) variant of CLN3 (Battenin)
S69L (p.Ser69Leu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
S69L (p.Ser69Leu) variant details
- p.Ser69Leu
- rs769840061
- ClinGen CA313767
- cosmic curated COSV10034
- ClinVar RCV000187025
- Uncertain significance
- not provided; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 21.40
- PolyPhen-2 0.24
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.036)
- 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)