P12A (p.Pro12Ala) variant of PPARG (P37231)
P12A (p.Pro12Ala) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; PPARG-related familial partial lipodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- rs1801282
- ClinGen CA154763
- ClinVar RCV000118044
- ClinVar RCV000300998
- Benign/Likely benign
- not specified; not provided; PPARG-related familial partial lipodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 15.10
- ClinVar: Benign/Likely benign (not specified; not provided; PPARG-related familial partial lipo)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PEL population (allele frequency 0.26)
- Structural context available
- Cited in: Loss-of-function mutations in PPAR gamma associated with human colon cancer. (PMID 10394368)
- Cited in: Missense variants in the human peroxisome proliferator-activated receptor-gamma2 gene in lean and obese subjects. (PMID 10407229)