A7P (p.Ala7Pro) variant of KMT2D (O14686)
A7P (p.Ala7Pro) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; K. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- ExAC rs748617194
- TOPMed rs748617194
- gnomAD rs748617194
- Uncertain significance
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; K
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.39
- MetaLR 0.20
- MetaSVM -0.89
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available