A155T (p.Ala155Thr) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A155T (p.Ala155Thr) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A155T (p.Ala155Thr) variant details
- p.Ala155Thr
- rs755902342
- ClinGen CA3176331
- ClinVar RCV002666567
- ClinVar RCV003269226
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.10
- CADD 17.90
- PolyPhen-2 0.10
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- 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)