A127T (p.Ala127Thr) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A127T (p.Ala127Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A127T (p.Ala127Thr) variant details
- p.Ala127Thr
- rs1047334552
- ClinGen CA112860009
- ClinVar RCV001953136
- UniProt VAR 076419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.70
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in DIAR8)
- UniProt: Uncertain significance (in DIAR8)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. (PMID 26358773)
- Cited in: Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. (PMID 31276831)