S78R (p.Ser78Arg) variant of ABCG5 (Q9H222)
S78R (p.Ser78Arg) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S78R (p.Ser78Arg) variant details
- p.Ser78Arg
- rs748628439
- NCI-TCGA Cosmic COSV5320
- cosmic curated COSV53209
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 13.00
- PolyPhen-2 0.97
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available