G5S (p.Gly5Ser) variant of GRIN2D (O15399)
G5S (p.Gly5Ser) in GRIN2D (O15399) 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 0.24 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs2147434057
- ClinGen CA406688104
- ClinVar RCV003579796
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 0.87
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 5.3e-05)
- Structural context available