Q54P (p.Gln54Pro) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q54P (p.Gln54Pro) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Inborn genetic diseases; not provided; Familial focal epilepsy with variable foc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q54P (p.Gln54Pro) variant details
- p.Gln54Pro
- rs201312113
- ClinGen CA10195853
- cosmic curated COSV56695
- ClinVar RCV000254580
- Benign
- Inborn genetic diseases; not provided; Familial focal epilepsy with variable foc
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign (Inborn genetic diseases; not provided; Familial focal epilepsy w)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: DEPDC5-Related Epilepsy. (PMID 27683934)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)