V148I (p.Val148Ile) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V148I (p.Val148Ile) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V148I (p.Val148Ile) variant details
- p.Val148Ile
- rs765054136
- ClinGen CA3176338
- cosmic curated COSV53800
- ClinVar RCV001998482
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.09
- CADD 19.20
- PolyPhen-2 0.49
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00062)
- 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)