T27R (p.Thr27Arg) variant of KCNQ4 (P56696)
T27R (p.Thr27Arg) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T27R (p.Thr27Arg) variant details
- p.Thr27Arg
- rs1001249688
- ClinGen CA21089024
- ClinVar RCV003881864
- ClinVar RCV004987133
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.36
- MetaLR 0.84
- MetaSVM 0.38
- CADD 22.30
- PolyPhen-2 0.39
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)