K15N (p.Lys15Asn) variant of CPS1 (P31327)
K15N (p.Lys15Asn) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K15N (p.Lys15Asn) variant details
- p.Lys15Asn
- gnomAD 2-210556778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available