I44V (p.Ile44Val) variant of KCNJ10 (P78508)
I44V (p.Ile44Val) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- rs1331687844
- ClinGen CA343230061
- ClinVar RCV002701104
- ClinVar RCV002710072
- Uncertain significance
- not provided; Inborn genetic diseases; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 15.20
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; 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)