P61T (p.Pro61Thr) variant of TECTA (Alpha-tectorin)
P61T (p.Pro61Thr) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P61T (p.Pro61Thr) variant details
- p.Pro61Thr
- TOPMed rs1041510767
- gnomAD rs1041510767
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.46
- MetaLR 0.37
- MetaSVM -0.44
- CADD 23.50
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available