R63H (p.Arg63His) variant of TECTA (Alpha-tectorin)
R63H (p.Arg63His) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- cosmic curated COSV10803
- ExAC rs757192942
- TOPMed rs757192942
- gnomAD rs757192942
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.43
- MetaLR 0.35
- MetaSVM -0.29
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available