V20L (p.Val20Leu) variant of NPC1 (O15118)
V20L (p.Val20Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs1444708311
- ClinGen CA402041448
- NCI-TCGA Cosmic COSV5257
- ClinVar RCV001754367
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.42
- CADD 26.00
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available