S21T (p.Ser21Thr) variant of ABCG8 (Q9H221)
S21T (p.Ser21Thr) in ABCG8 (Q9H221) is a missense change. 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.
S21T (p.Ser21Thr) variant details
- p.Ser21Thr
- Ensembl rs2104901890
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.23
- CADD 7.16
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available