P14P (p.Pro14Pro) variant of SGCD (Delta-sarcoglycan)
P14P (p.Pro14Pro) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P14P (p.Pro14Pro) variant details
- p.Pro14Pro
- rs727505092
- gnomAD 5-156344530-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0978
- CADD 2.42
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available