P41Q (p.Pro41Gln) variant of HTT (Huntingtin)
P41Q (p.Pro41Gln) in HTT (Huntingtin) 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 0.24 / 1. The record also includes published literature and structural context.
P41Q (p.Pro41Gln) variant details
- p.Pro41Gln
- rs1261369311
- ClinGen CA356075328
- ClinVar RCV002961402
- gnomAD rs1261369311
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.38
- 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)