R51Q (p.Arg51Gln) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R51Q (p.Arg51Gln) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- cosmic curated COSV55592
- ExAC rs759766975
- gnomAD rs759766975
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- MetaLR 0.23
- MetaSVM -0.90
- CADD 17.00
- PolyPhen-2 0.08
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available