M42T (p.Met42Thr) variant of CLCN5 (P51795)
M42T (p.Met42Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M42T (p.Met42Thr) variant details
- p.Met42Thr
- gnomAD X-50042424-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- MetaLR 0.45
- MetaSVM -0.40
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available