I61V (p.Ile61Val) variant of SLC12A3 (P55017)
I61V (p.Ile61Val) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- ExAC rs754133663
- gnomAD rs754133663
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 6.92
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available