R29Q (p.Arg29Gln) variant of PLAT (P00750)
R29Q (p.Arg29Gln) in PLAT (P00750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- cosmic curated COSV99535
- ESP rs367949901
- ExAC rs367949901
- gnomAD rs367949901
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- CADD 18.50
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available