P18L (p.Pro18Leu) variant of KMT2C (Q8NEZ4)
P18L (p.Pro18Leu) in KMT2C (Q8NEZ4) 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; Kleefstra syndrome 2. The record also includes variant effect predictions, population frequency data, and published literature.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs758889240
- ClinGen CA4581845
- ClinVar RCV002015640
- ClinVar RCV003134337
- Conflicting interpretations
- Inborn genetic diseases; not provided; Kleefstra syndrome 2
- Missense
- REVEL 0.29
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Kleefstra syndrome 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00037)
- 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)