N24S (p.Asn24Ser) variant of ITPR2 (Q14571)
N24S (p.Asn24Ser) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs2230371
- ClinGen CA6490220
- ClinVar RCV000968684
- 1000Genomes rs2230371
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.33
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available