G71R (p.Gly71Arg) variant of TECTA (Alpha-tectorin)
G71R (p.Gly71Arg) in TECTA (Alpha-tectorin) 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 21. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- rs1364447010
- TOPMed rs1364447010
- gnomAD rs1364447010
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 21
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.84
- MetaLR 0.81
- MetaSVM 0.85
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 21)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available