K35R (p.Lys35Arg) variant of NPC2 (P61916)
K35R (p.Lys35Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K35R (p.Lys35Arg) variant details
- p.Lys35Arg
- TOPMed rs1235656880
- gnomAD rs1235656880
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.22
- ESM-1b 0.76
- AlphaMissense 0.10
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available