S105L (p.Ser105Leu) variant of ITPR2 (Q14571)
S105L (p.Ser105Leu) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S105L (p.Ser105Leu) variant details
- p.Ser105Leu
- rs767122062
- ClinGen CA6490152
- cosmic curated COSV54386
- ClinVar RCV004093309
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.66
- CADD 25.00
- PolyPhen-2 0.56
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available