N41S (p.Asn41Ser) variant of NPC1 (O15118)
N41S (p.Asn41Ser) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- ExAC rs746658170
- gnomAD rs746658170
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available