P54A (p.Pro54Ala) variant of TECTA (Alpha-tectorin)
P54A (p.Pro54Ala) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes published literature and structural context.
P54A (p.Pro54Ala) variant details
- p.Pro54Ala
- rs374289159
- ClinGen CA229826640
- ClinVar RCV003386700
- TOPMed rs374289159
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.27
- MetaLR 0.48
- MetaSVM -0.12
- PolyPhen-2 0.99
- SIFT 0.09
- EVE 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)