M21T (p.Met21Thr) variant of KCNJ10 (P78508)
M21T (p.Met21Thr) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
M21T (p.Met21Thr) variant details
- p.Met21Thr
- rs878854483
- ClinGen CA10581732
- ClinVar RCV000229107
- ClinVar RCV002365189
- Uncertain significance
- Inborn genetic diseases; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)