L46V (p.Leu46Val) variant of SGCD (Delta-sarcoglycan)
L46V (p.Leu46Val) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- gnomAD 5-156344624-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available