M79T (p.Met79Thr) variant of NPC2 (P61916)
M79T (p.Met79Thr) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M79T (p.Met79Thr) variant details
- p.Met79Thr
- Ensembl rs1487074303
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.27
- ESM-1b 0.24
- AlphaMissense 0.30
- CADD 15.00
- PolyPhen-2 0.10
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available