V60I (p.Val60Ile) variant of TECTA (Alpha-tectorin)
V60I (p.Val60Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- cosmic curated COSV50695
- ESP rs376541939
- ExAC rs376541939
- gnomAD rs376541939
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.82
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available