K111N (p.Lys111Asn) variant of CNGA1 (P29973)
K111N (p.Lys111Asn) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K111N (p.Lys111Asn) variant details
- p.Lys111Asn
- Ensembl rs2110142188
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.06
- CADD 13.60
- PolyPhen-2 0.99
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available