P36S (p.Pro36Ser) variant of KMT2D (O14686)
P36S (p.Pro36Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Kabuki syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs954226380
- ClinGen CA236624413
- ClinVar RCV002049927
- ClinVar RCV002543463
- Benign/Likely benign
- Kabuki syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.29
- MetaLR 0.23
- MetaSVM -0.86
- CADD 8.09
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Benign/Likely benign (Kabuki syndrome; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)