L27P (p.Leu27Pro) variant of TECTA (Alpha-tectorin)
L27P (p.Leu27Pro) 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 provided; Autosomal recessive nonsyndromic hearing loss 21; Autosomal domina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- rs373248083
- ClinGen CA6326420
- ClinVar RCV000290359
- ClinVar RCV000328929
- Uncertain significance
- not provided; Autosomal recessive nonsyndromic hearing loss 21; Autosomal domina
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.08
- CADD 24.90
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Autosomal recessive nonsyndromic hearing loss 21;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)