D18Y (p.Asp18Tyr) variant of KMT2D (O14686)
D18Y (p.Asp18Tyr) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- rs749662138
- ClinGen CA6548801
- ClinVar RCV002923149
- ClinVar RCV005010792
- Conflicting interpretations
- Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.45
- MetaLR 0.60
- MetaSVM 0.34
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delaye)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)