T105S (p.Thr105Ser) variant of PKD1 (Polycystin-1)
T105S (p.Thr105Ser) in PKD1 (Polycystin-1) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T105S (p.Thr105Ser) variant details
- p.Thr105Ser
- rs200420603
- ClinGen CA7833740
- ClinVar RCV002960333
- ClinVar RCV003332415
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -0.98
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.04)
- 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)