A84S (p.Ala84Ser) variant of CNGA1 (P29973)
A84S (p.Ala84Ser) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A84S (p.Ala84Ser) variant details
- p.Ala84Ser
- gnomAD rs1238418426
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.16
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.42
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available