D49N (p.Asp49Asn) variant of PPARGC1A (Q9UBK2)
D49N (p.Asp49Asn) 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.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- gnomAD rs1382820228
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.23
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.49
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available