A72V (p.Ala72Val) variant of NPC2 (P61916)
A72V (p.Ala72Val) in NPC2 (P61916) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- rs1242060760
- NCI-TCGA Cosmic COSV5314
- cosmic curated COSV53143
- gnomAD rs1242060760
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 25.10
- PolyPhen-2 0.56
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available