V36I (p.Val36Ile) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
V36I (p.Val36Ile) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- rs2089321131
- ClinGen CA414606524
- ClinVar RCV002413149
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)