M12T (p.Met12Thr) variant of CLDN10 (Claudin-10)
M12T (p.Met12Thr) in CLDN10 (Claudin-10) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- rs759535516
- ClinGen CA7020095
- ClinVar RCV004444299
- ExAC rs759535516
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.09
- 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)