L10P (p.Leu10Pro) variant of GJB2 (Gap junction beta-2 protein)
L10P (p.Leu10Pro) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- rs1959063711
- ClinGen CA387462233
- ClinVar RCV001257046
- Ensembl rs1959063711
- Uncertain significance
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.94
- ClinVar: Uncertain significance (Nonsyndromic genetic hearing loss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available