V69F (p.Val69Phe) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
V69F (p.Val69Phe) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V69F (p.Val69Phe) variant details
- p.Val69Phe
- cosmic curated COSV55592
- 1000Genomes rs557116456
- ExAC rs557116456
- TOPMed rs557116456
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- MetaLR 0.06
- MetaSVM -1.03
- CADD 16.50
- PolyPhen-2 0.07
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available