M53I (p.Met53Ile) variant of SLC12A3 (P55017)
M53I (p.Met53Ile) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M53I (p.Met53Ile) variant details
- p.Met53Ile
- gnomAD 16-56865394-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- MetaLR 0.66
- MetaSVM -0.03
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available