S31L (p.Ser31Leu) variant of SPTBN2 (O15020)
S31L (p.Ser31Leu) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Autosomal recessive spinocerebellar ataxia 14; Spinocer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- rs147766428
- ClinGen CA6129776
- ClinVar RCV000585022
- ClinVar RCV002244994
- Conflicting interpretations
- Inborn genetic diseases; Autosomal recessive spinocerebellar ataxia 14; Spinocer
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Autosomal recessive spinocerebellar ata)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- 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)