M26I (p.Met26Ile) variant of ATP6V1B1 (P15313)
M26I (p.Met26Ile) in ATP6V1B1 (P15313) 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.
M26I (p.Met26Ile) variant details
- p.Met26Ile
- ExAC rs782635244
- gnomAD rs782635244
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.15
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available