K42N (p.Lys42Asn) variant of PCCB (P05166)
K42N (p.Lys42Asn) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- gnomAD 3-136250501-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.56
- ESM-1b 0.91
- AlphaMissense 0.71
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available