R54P (p.Arg54Pro) variant of SLC12A3 (P55017)
R54P (p.Arg54Pro) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- gnomAD 16-56865396-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- MetaLR 0.91
- MetaSVM 1.00
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available