P34S (p.Pro34Ser) variant of PPARGC1A (Q9UBK2)
P34S (p.Pro34Ser) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD rs1716597875
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.49
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available