P10L (p.Pro10Leu) variant of GRIN2D (O15399)
P10L (p.Pro10Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs2516061577
- ClinGen CA406688138
- ClinVar RCV004395892
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 19.60
- PolyPhen-2 0.22
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.5e-06)
- 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)