K102N (p.Lys102Asn) variant of GNAQ (P50148)
K102N (p.Lys102Asn) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K102N (p.Lys102Asn) variant details
- p.Lys102Asn
- gnomAD rs1468666506
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- MetaLR 0.56
- MetaSVM -0.06
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available