P58L (p.Pro58Leu) variant of GJB6 (Gap junction beta-6 protein)
P58L (p.Pro58Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Autosomal dominant nonsyndromic hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs764997003
- ClinGen CA6904497
- ClinVar RCV003287499
- ClinVar RCV005636893
- Uncertain significance
- Inborn genetic diseases; not provided; Autosomal dominant nonsyndromic hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Autosomal dominant nonsyn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)