A13V (p.Ala13Val) variant of SLCO1B1 (Q9Y6L6)
A13V (p.Ala13Val) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 12-21141612-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0929
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.04
- CADD 1.74
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available