V21A (p.Val21Ala) variant of PIK3CD (O00329)
V21A (p.Val21Ala) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs770275584
- ClinGen CA576769
- ClinVar RCV002047379
- ClinVar RCV005453348
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0766
- REVEL 0.05
- CADD 5.16
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)