L81F (p.Leu81Phe) variant of KCNJ10 (P78508)
L81F (p.Leu81Phe) 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 0.61 / 1. The record also includes population frequency data and published literature.
L81F (p.Leu81Phe) variant details
- p.Leu81Phe
- rs939420346
- ClinGen CA31471198
- ClinVar RCV001202418
- ClinVar RCV002451416
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- 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)