M38T (p.Met38Thr) variant of CLCN5 (P51795)
M38T (p.Met38Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- TOPMed rs1264016265
- gnomAD rs1264016265
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- MetaLR 0.50
- MetaSVM -0.29
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available