P43P (p.Pro43Pro) variant of NCSTN (Nicastrin)
P43P (p.Pro43Pro) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P43P (p.Pro43Pro) variant details
- p.Pro43Pro
- rs886949771
- gnomAD 1-160343726-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.86
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available