M61V (p.Met61Val) variant of PIK3CD (O00329)
M61V (p.Met61Val) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M61V (p.Met61Val) variant details
- p.Met61Val
- rs1057524823
- ClinGen CA16603713
- ClinVar RCV000418140
- Ensembl rs1057524823
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.16
- CADD 20.40
- PolyPhen-2 0.10
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available