P21L (p.Pro21Leu) variant of NPC2 (P61916)
P21L (p.Pro21Leu) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- ExAC rs776749539
- TOPMed rs776749539
- gnomAD rs776749539
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.55
- ESM-1b 0.33
- AlphaMissense 0.24
- CADD 25.10
- PolyPhen-2 0.72
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available