R2Q (p.Arg2Gln) variant of HNF4A (P41235)
R2Q (p.Arg2Gln) in HNF4A (P41235) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R2Q (p.Arg2Gln) variant details
- p.Arg2Gln
- rs781467980
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- ExAC rs781467980
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.53
- MetaLR 0.74
- MetaSVM 0.71
- CADD 29.10
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available