M53T (p.Met53Thr) variant of SLC12A3 (P55017)
M53T (p.Met53Thr) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M53T (p.Met53Thr) variant details
- p.Met53Thr
- ExAC rs764387304
- TOPMed rs764387304
- gnomAD rs764387304
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available