P27L (p.Pro27Leu) variant of KMT2C (Q8NEZ4)
P27L (p.Pro27Leu) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs769792555
- ClinGen CA4581834
- ClinVar RCV003245570
- ClinVar RCV003730493
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.39
- CADD 23.20
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)