L30P (p.Leu30Pro) variant of CLCN5 (P51795)
L30P (p.Leu30Pro) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD X-50042388-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.55
- MetaLR 0.66
- MetaSVM 0.22
- CADD 24.80
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available