P10T (p.Pro10Thr) variant of GRIN2D (O15399)
P10T (p.Pro10Thr) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- TOPMed rs1473663651
- gnomAD rs1473663651
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.20
- PolyPhen-2 0.45
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.016)
- Structural context available