T8R (p.Thr8Arg) variant of PCCA (P05165)
T8R (p.Thr8Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- TOPMed rs2046026105
- gnomAD rs2046026105
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available