M3T (p.Met3Thr) variant of CLCN5 (P51795)
M3T (p.Met3Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M3T (p.Met3Thr) variant details
- p.Met3Thr
- TOPMed rs1310442729
- gnomAD rs1310442729
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.19
- MetaLR 0.49
- MetaSVM -0.39
- CADD 17.70
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available