N41K (p.Asn41Lys) variant of PCCB (P05166)
N41K (p.Asn41Lys) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N41K (p.Asn41Lys) variant details
- p.Asn41Lys
- ExAC rs777478881
- gnomAD rs777478881
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available