P17T (p.Pro17Thr) variant of ABCG8 (Q9H221)
P17T (p.Pro17Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- TOPMed rs1668464670
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.26
- CADD 2.21
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available