S65A (p.Ser65Ala) variant of NFKB1 (P19838)
S65A (p.Ser65Ala) in NFKB1 (P19838) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S65A (p.Ser65Ala) variant details
- p.Ser65Ala
- rs1170050395
- gnomAD 4-102537894-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.44
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available