Q19R (p.Gln19Arg) variant of TECTA (Alpha-tectorin)
Q19R (p.Gln19Arg) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Autosomal recessive nonsyndromic hearing loss 21. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- rs35507522
- ClinGen CA136067
- ClinVar RCV000038504
- ClinVar RCV000276184
- Benign/Likely benign
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 21
- Missense
- Variant Prioritization Score for Impact Estimate 0.0921
- REVEL 0.07
- MetaLR 0.00
- MetaSVM -1.04
- CADD 1.54
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Benign/Likely benign (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Benign (in dbSNP:rs35507522)
- UniProt: Benign (in dbSNP:rs35507522)
- Most common in the HGDP:BIAKA population (allele frequency 0.27)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)