R8T (p.Arg8Thr) variant of GBA1 (P04062)
R8T (p.Arg8Thr) in GBA1 (P04062) 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 0.31 / 1. The record also includes population frequency data and structural context.
R8T (p.Arg8Thr) variant details
- p.Arg8Thr
- rs759983265
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- NCI-TCGA Cosmic COSV5916
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.32
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available