G36D (p.Gly36Asp) variant of GNAT1 (P11488)
G36D (p.Gly36Asp) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs772024349
- ClinGen CA2412452
- ClinVar RCV000787836
- ClinVar RCV001370367
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)