L16M (p.Leu16Met) variant of DNM1 (Dynamin-1)
L16M (p.Leu16Met) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 31A; not specified; Inborn genetic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- rs61757224
- ClinGen CA5257721
- ClinVar RCV000435986
- ClinVar RCV000533789
- Benign
- Developmental and epileptic encephalopathy, 31A; not specified; Inborn genetic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.52
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Benign (Developmental and epileptic encephalopathy, 31A; not specified;)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HAN population (allele frequency 0.22)
- 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)