P25P (p.Pro25Pro) variant of DES (Desmin)
P25P (p.Pro25Pro) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P25P (p.Pro25Pro) variant details
- p.Pro25Pro
- rs1318299
- gnomAD 2-219418537-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 13.40
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. (PMID 28076348)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)