L31R (p.Leu31Arg) variant of PCCA (P05165)
L31R (p.Leu31Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- TOPMed rs1566436616
- gnomAD rs1566436616
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 24.00
- PolyPhen-2 0.58
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available