L50F (p.Leu50Phe) variant of KCNJ10 (P78508)
L50F (p.Leu50Phe) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- rs773510302
- ClinGen CA1193287
- ClinVar RCV000646753
- ClinVar RCV000725019
- Uncertain significance
- EAST syndrome; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (EAST syndrome; Pendred syndrome; Autosomal recessive nonsyndromi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)