S6F (p.Ser6Phe) variant of ABCG5 (Q9H222)
S6F (p.Ser6Phe) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- cosmic curated COSV10502
- Missense
- Variant Prioritization Score for Impact Estimate 0.0695
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available