T2R (p.Thr2Arg) variant of KCNJ10 (P78508)
T2R (p.Thr2Arg) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature.
T2R (p.Thr2Arg) variant details
- p.Thr2Arg
- rs1378425325
- ClinGen CA343231496
- ClinVar RCV001316139
- ClinVar RCV002486241
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.19
- MetaLR 0.34
- MetaSVM -0.44
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)