D4N (p.Asp4Asn) variant of PPARGC1A (Q9UBK2)
D4N (p.Asp4Asn) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- ExAC rs761253295
- gnomAD rs761253295
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.22
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available