P22T (p.Pro22Thr) variant of LRP2 (P98164)
P22T (p.Pro22Thr) in LRP2 (P98164) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- rs759114383
- ClinGen CA1956022
- ClinVar RCV003206404
- ExAC rs759114383
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)