P49T (p.Pro49Thr) variant of KMT2D (O14686)
P49T (p.Pro49Thr) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- rs372067643
- ClinGen CA6548789
- ClinVar RCV003588093
- ClinVar RCV005013016
- Benign/Likely benign
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; K
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.23
- MetaLR 0.20
- MetaSVM -0.92
- CADD 2.05
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Benign/Likely benign (Choanal atresia-athelia-hypothyroidism-delayed puberty-short sta)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)