A50S (p.Ala50Ser) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A50S (p.Ala50Ser) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Christianson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- rs367724979
- ClinGen CA318535
- ClinVar RCV000865182
- ClinVar RCV001721224
- Likely benign
- Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 6.61
- ClinVar: Likely benign (Christianson syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00028)
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)