R63C (p.Arg63Cys) variant of TECTA (Alpha-tectorin)
R63C (p.Arg63Cys) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Autosomal dominant nonsyndromic hearing loss 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- rs876658015
- ClinGen CA10576832
- cosmic curated COSV50750
- ClinVar RCV000215968
- Uncertain significance
- not specified; not provided; Autosomal dominant nonsyndromic hearing loss 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.52
- MetaLR 0.53
- MetaSVM 0.07
- CADD 27.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Autosomal dominant nonsyndromic hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available